Canonical Allele Identifier: CA2147059253

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480617_74480618delinsCT , CM000676.2:g.74480617_74480618delinsCT	GRCh38
NC_000014.8:g.74947320_74947321delinsCT , CM000676.1:g.74947320_74947321delinsCT	GRCh37
NC_000014.7:g.74017073_74017074delinsCT	NCBI36
NG_007117.1:g.17764_17765delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+84_441+85delinsAG MANE Select	ENSP00000451112.2:n.441+84_441+85delinsAG
ENST00000238633.6:c.432+93_432+94delinsAG	ENSP00000238633.2:n.432+93_432+94delinsAG
ENST00000434013.6:c.441+84_441+85delinsAG	ENSP00000412103.2:n.441+84_441+85delinsAG
ENST00000541064.5:c.364-330_364-329delinsAG	ENSP00000442488.1:n.364-330_364-329delinsAG
ENST00000553490.5:c.457+68_457+69delinsAG	ENSP00000451180.1:n.457+68_457+69delinsAG
ENST00000554482.1:c.236+84_236+85delinsAG	ENSP00000451314.1:n.236+84_236+85delinsAG
ENST00000555619.5:c.441+84_441+85delinsAG	ENSP00000451112.1:n.441+84_441+85delinsAG
ENST00000556009.5:c.506+84_506+85delinsAG
ENST00000557510.5:c.525_*1delinsAG	ENSP00000451206.1:n.[c.525_*1delinsAG;Ter175=]
NM_006432.3:c.441+84_441+85delinsAG	NP_006423.1:n.441+84_441+85delinsAG
NM_001363688.1:c.525_*1delinsAG	NP_001350617.1:n.[c.525_*1delinsAG;Ter175=]
NM_006432.4:c.441+84_441+85delinsAG	NP_006423.1:n.441+84_441+85delinsAG
NM_001375440.1:c.364-330_364-329delinsAG	NP_001362369.1:n.364-330_364-329delinsAG
NM_006432.5:c.441+84_441+85delinsAG MANE Select	NP_006423.1:n.441+84_441+85delinsAG